Myotilin is a sarcomeric protein mutated in two forms of muscle disease, limb-girdle muscular dystrophy type 1A and myofibrillar myopathy. Myotilin is expressed late during human myofibrillogenesis and localizes to Z-discs in mature sarcomere. It interacts with α-actinin, actin, and filamin C, and has strong F-actin-bundling activity. These features suggest an important role for myotilin in sarcomere organization. In our effort towards the construction of a genetic model for myotilin-related muscle disorders, we have cloned mouse myotilin, including its promoter region, and studied the expression in various tissues. Mouse myotilin is 90% identical with the human orthologue. Northern blot analysis revealed strong mRNA transcripts in skeletal and cardiac muscle, and weak expression in liver and lung tissue. Western blot and RT-PCR analysis showed the presence of one major product in mouse tissues. Analysis of the 5′-flanking region revealed a number of putative regulatory elements that drive expression in differentiating myoblasts. Finally, endogenous myotilin is induced at later stages of Z-disc assembly in C2C12 cells indicating conservation between mouse and human promoter region. © 2005 Elsevier Inc. All rights reserved
Mologni, L., Moza, M., Lalowski, M., Carpen, O. (2005). Characterization of mouse myotilin and its promoter. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 329(3), 1001-1009 [10.1016/j.bbrc.2005.02.074].
Characterization of mouse myotilin and its promoter
Mologni L.;
2005
Abstract
Myotilin is a sarcomeric protein mutated in two forms of muscle disease, limb-girdle muscular dystrophy type 1A and myofibrillar myopathy. Myotilin is expressed late during human myofibrillogenesis and localizes to Z-discs in mature sarcomere. It interacts with α-actinin, actin, and filamin C, and has strong F-actin-bundling activity. These features suggest an important role for myotilin in sarcomere organization. In our effort towards the construction of a genetic model for myotilin-related muscle disorders, we have cloned mouse myotilin, including its promoter region, and studied the expression in various tissues. Mouse myotilin is 90% identical with the human orthologue. Northern blot analysis revealed strong mRNA transcripts in skeletal and cardiac muscle, and weak expression in liver and lung tissue. Western blot and RT-PCR analysis showed the presence of one major product in mouse tissues. Analysis of the 5′-flanking region revealed a number of putative regulatory elements that drive expression in differentiating myoblasts. Finally, endogenous myotilin is induced at later stages of Z-disc assembly in C2C12 cells indicating conservation between mouse and human promoter region. © 2005 Elsevier Inc. All rights reserved
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